Pregnant Women Are Finding Out They Have Cancer From A Genetic Test Of Their Babies

Last May, when she was 10 weeks pregnant, Eunice Lee took a blood test to screen for diseases in her baby.

The test, called MaterniT21 PLUS, promised clear answers about the sex of her fetus as well an array of disorders, including Down syndrome. At 40 years old, Lee knew her baby had an elevated risk of genetic disease, and so she wanted this information as soon as possible.

Two weeks later Lee went to her obstetrician’s office to get the results. But instead of hearing about her baby’s genome, she got a shock about her own health.

“My OB walked into my room and was holding the sheet of paper in her hand,” Lee, an anesthesiologist in Santa Barbara, California, told BuzzFeed News. The doctor had just hung up the phone with Sequenom Laboratories, the San Diego company that performs the test.

“The director of the laboratory called my obstetrician and told her I needed to be worked up for cancer,” Lee said, “which was just alarming, to her and also to myself, because I had no idea I had cancer.”

MaterniT21 PLUS was the first noninvasive prenatal test (NIPT) to hit the market, in October 2011, and Sequenom has sold more than 400,000 of them. Five other companies — three in California and two in China — sell similar tests, and demand is rising sharply.

“There’s been about 800,000 women in the past year in the U.S. who have had an NIPT,” Eric Topol, a professor of genomics at the Scripps Research Institute, told BuzzFeed News. That’s a lot — about 20% of the 4 million total babies born each year. “It’s the hottest molecular test ever in the history of medicine.”

As the numbers tick upward, these tests — which only require a blood draw — are turning up rare genetic glitches not only in the DNA of the fetus, but the mother.

Today at the Future of Genomic Medicine conference in La Jolla, California, scientists from Sequenom said they have seen more than 40 cases in which the test revealed an abnormal genetic profile suggestive of cancer in the mother. At least 26 of these women were subsequently confirmed to have cancer, including Eunice Lee.